Incidental Mutation 'R7288:Ift172'
ID |
566150 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ift172
|
Ensembl Gene |
ENSMUSG00000038564 |
Gene Name |
intraflagellar transport 172 |
Synonyms |
4930553F24Rik, wim, avc1 |
MMRRC Submission |
045395-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7288 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
31410623-31448458 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 31442630 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 179
(Y179C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049335
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041565]
[ENSMUST00000201809]
|
AlphaFold |
Q6VH22 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041565
AA Change: Y179C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000049335 Gene: ENSMUSG00000038564 AA Change: Y179C
Domain | Start | End | E-Value | Type |
WD40
|
2 |
44 |
6e-3 |
SMART |
WD40
|
55 |
94 |
2.22e0 |
SMART |
WD40
|
102 |
139 |
1.23e2 |
SMART |
WD40
|
141 |
180 |
4.6e0 |
SMART |
WD40
|
186 |
223 |
3.3e1 |
SMART |
WD40
|
225 |
267 |
4.42e1 |
SMART |
WD40
|
279 |
314 |
1.03e1 |
SMART |
Blast:WD40
|
516 |
550 |
5e-13 |
BLAST |
low complexity region
|
573 |
588 |
N/A |
INTRINSIC |
internal_repeat_1
|
625 |
1026 |
1.7e-10 |
PROSPERO |
Blast:TPR
|
1029 |
1062 |
2e-13 |
BLAST |
low complexity region
|
1077 |
1091 |
N/A |
INTRINSIC |
internal_repeat_1
|
1101 |
1498 |
1.7e-10 |
PROSPERO |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201809
|
SMART Domains |
Protein: ENSMUSP00000144425 Gene: ENSMUSG00000038564
Domain | Start | End | E-Value | Type |
WD40
|
2 |
44 |
3.8e-5 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202589
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014] PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality during organogenesis, neural tube defects, and developmental patterning abnormalities. Mice homozygous for a conditional allele activated in the early limb bud exhibit polydactyly and short limbs. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
T |
A |
11: 58,771,131 (GRCm39) |
D204E |
probably benign |
Het |
Adh1 |
T |
G |
3: 137,988,493 (GRCm39) |
D155E |
probably benign |
Het |
Akt1s1 |
T |
C |
7: 44,498,571 (GRCm39) |
L2P |
unknown |
Het |
Ash1l |
T |
A |
3: 88,873,199 (GRCm39) |
|
probably benign |
Het |
Bend7 |
C |
T |
2: 4,757,641 (GRCm39) |
P228S |
probably damaging |
Het |
Bpifc |
T |
C |
10: 85,824,585 (GRCm39) |
E218G |
possibly damaging |
Het |
Cdk6 |
T |
A |
5: 3,479,001 (GRCm39) |
F127Y |
probably benign |
Het |
Cgnl1 |
A |
T |
9: 71,632,846 (GRCm39) |
H168Q |
possibly damaging |
Het |
Chd7 |
C |
T |
4: 8,847,093 (GRCm39) |
T1612I |
possibly damaging |
Het |
Col4a4 |
A |
T |
1: 82,470,184 (GRCm39) |
C782S |
unknown |
Het |
Copg2 |
T |
A |
6: 30,801,341 (GRCm39) |
I364L |
probably damaging |
Het |
Crygb |
A |
G |
1: 65,121,084 (GRCm39) |
L81P |
probably benign |
Het |
Cyp4f18 |
A |
T |
8: 72,747,017 (GRCm39) |
M326K |
probably damaging |
Het |
Dhx34 |
A |
G |
7: 15,949,361 (GRCm39) |
S356P |
probably benign |
Het |
Dmbt1 |
C |
T |
7: 130,685,519 (GRCm39) |
Q855* |
probably null |
Het |
Dnai3 |
T |
C |
3: 145,787,007 (GRCm39) |
T343A |
probably damaging |
Het |
Dnph1 |
A |
G |
17: 46,809,938 (GRCm39) |
N160S |
probably benign |
Het |
Esrra |
A |
T |
19: 6,890,139 (GRCm39) |
C228* |
probably null |
Het |
Evpl |
T |
C |
11: 116,114,775 (GRCm39) |
N972D |
probably benign |
Het |
Fat3 |
T |
C |
9: 15,909,888 (GRCm39) |
D2038G |
probably damaging |
Het |
Fhit |
T |
A |
14: 9,763,784 (GRCm38) |
R102W |
probably damaging |
Het |
Gal3st1 |
A |
T |
11: 3,948,609 (GRCm39) |
D272V |
probably damaging |
Het |
Gal3st1 |
T |
A |
11: 3,948,651 (GRCm39) |
V286D |
probably damaging |
Het |
Gemin4 |
A |
T |
11: 76,104,206 (GRCm39) |
M185K |
possibly damaging |
Het |
Hecw1 |
T |
C |
13: 14,490,821 (GRCm39) |
I311V |
probably benign |
Het |
Ighv7-3 |
C |
T |
12: 114,116,963 (GRCm39) |
W66* |
probably null |
Het |
Iqgap3 |
T |
A |
3: 88,016,142 (GRCm39) |
I975N |
probably damaging |
Het |
Khdrbs3 |
A |
G |
15: 68,921,262 (GRCm39) |
E281G |
possibly damaging |
Het |
Lamb2 |
A |
T |
9: 108,365,523 (GRCm39) |
T1369S |
probably benign |
Het |
Mettl8 |
A |
T |
2: 70,812,382 (GRCm39) |
D84E |
probably benign |
Het |
Mrgprb3 |
C |
A |
7: 48,293,059 (GRCm39) |
C164F |
probably damaging |
Het |
Mtg2 |
A |
G |
2: 179,725,180 (GRCm39) |
Y131C |
probably damaging |
Het |
Nacc1 |
C |
T |
8: 85,403,174 (GRCm39) |
A234T |
probably benign |
Het |
Nsmaf |
C |
T |
4: 6,416,641 (GRCm39) |
V551I |
probably benign |
Het |
Or13a26 |
T |
A |
7: 140,284,942 (GRCm39) |
C259* |
probably null |
Het |
Or7e175 |
T |
A |
9: 20,048,737 (GRCm39) |
Y108* |
probably null |
Het |
Oxr1 |
C |
T |
15: 41,677,004 (GRCm39) |
P187L |
not run |
Het |
Pcdhb12 |
T |
A |
18: 37,569,068 (GRCm39) |
D71E |
probably benign |
Het |
Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
Pkm |
A |
G |
9: 59,576,196 (GRCm39) |
S127G |
probably benign |
Het |
Plxna2 |
T |
A |
1: 194,479,227 (GRCm39) |
L1296H |
probably damaging |
Het |
Ppil6 |
C |
G |
10: 41,374,524 (GRCm39) |
T135R |
probably benign |
Het |
Ppp2r3d |
T |
C |
9: 101,004,203 (GRCm39) |
Y378C |
probably damaging |
Het |
Rabep2 |
C |
T |
7: 126,043,377 (GRCm39) |
R426C |
probably damaging |
Het |
Rad21 |
A |
T |
15: 51,845,976 (GRCm39) |
H31Q |
possibly damaging |
Het |
Rad50 |
G |
T |
11: 53,545,776 (GRCm39) |
Y1182* |
probably null |
Het |
Serpinb9c |
C |
T |
13: 33,335,883 (GRCm39) |
A218T |
possibly damaging |
Het |
Slc34a1 |
C |
A |
13: 24,003,095 (GRCm39) |
H248Q |
probably benign |
Het |
Slc45a4 |
C |
A |
15: 73,458,785 (GRCm39) |
E255* |
probably null |
Het |
Slc8a3 |
T |
A |
12: 81,263,598 (GRCm39) |
K596N |
possibly damaging |
Het |
Tbc1d32 |
A |
C |
10: 55,927,483 (GRCm39) |
|
probably null |
Het |
Tbl2 |
T |
A |
5: 135,183,253 (GRCm39) |
I112N |
possibly damaging |
Het |
Tchp |
A |
C |
5: 114,853,630 (GRCm39) |
K238T |
probably damaging |
Het |
Tfap2d |
G |
A |
1: 19,189,207 (GRCm39) |
G251D |
probably damaging |
Het |
Thrb |
T |
A |
14: 18,030,186 (GRCm38) |
M324K |
probably damaging |
Het |
Tmem259 |
A |
T |
10: 79,814,300 (GRCm39) |
L328Q |
probably damaging |
Het |
Tmtc2 |
T |
C |
10: 105,249,469 (GRCm39) |
H88R |
probably damaging |
Het |
Tnfrsf21 |
A |
G |
17: 43,348,709 (GRCm39) |
H107R |
possibly damaging |
Het |
Trib1 |
T |
C |
15: 59,526,471 (GRCm39) |
V347A |
probably benign |
Het |
Ung |
T |
A |
5: 114,269,315 (GRCm39) |
L9* |
probably null |
Het |
Vmn1r195 |
G |
T |
13: 22,463,174 (GRCm39) |
V215F |
probably damaging |
Het |
Wdr90 |
A |
G |
17: 26,065,286 (GRCm39) |
S1657P |
probably benign |
Het |
Wdsub1 |
A |
T |
2: 59,708,487 (GRCm39) |
Y129N |
possibly damaging |
Het |
Zfp369 |
T |
G |
13: 65,432,832 (GRCm39) |
|
probably null |
Het |
Zfp770 |
G |
T |
2: 114,026,142 (GRCm39) |
C642* |
probably null |
Het |
Zfp981 |
C |
T |
4: 146,622,100 (GRCm39) |
R342C |
probably benign |
Het |
Zhx3 |
A |
C |
2: 160,623,042 (GRCm39) |
V375G |
probably damaging |
Het |
|
Other mutations in Ift172 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00476:Ift172
|
APN |
5 |
31,433,240 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01399:Ift172
|
APN |
5 |
31,423,592 (GRCm39) |
missense |
probably benign |
|
IGL01405:Ift172
|
APN |
5 |
31,419,196 (GRCm39) |
nonsense |
probably null |
|
IGL01562:Ift172
|
APN |
5 |
31,424,591 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01758:Ift172
|
APN |
5 |
31,438,058 (GRCm39) |
missense |
probably benign |
|
IGL01792:Ift172
|
APN |
5 |
31,434,215 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01830:Ift172
|
APN |
5 |
31,442,636 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01839:Ift172
|
APN |
5 |
31,423,694 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02007:Ift172
|
APN |
5 |
31,443,948 (GRCm39) |
missense |
probably benign |
0.17 |
IGL02172:Ift172
|
APN |
5 |
31,438,681 (GRCm39) |
splice site |
probably benign |
|
IGL02190:Ift172
|
APN |
5 |
31,411,802 (GRCm39) |
missense |
possibly damaging |
0.51 |
IGL02334:Ift172
|
APN |
5 |
31,440,402 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02486:Ift172
|
APN |
5 |
31,414,927 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02517:Ift172
|
APN |
5 |
31,410,992 (GRCm39) |
splice site |
probably null |
|
IGL02571:Ift172
|
APN |
5 |
31,415,235 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02626:Ift172
|
APN |
5 |
31,421,840 (GRCm39) |
missense |
probably benign |
|
IGL03183:Ift172
|
APN |
5 |
31,429,348 (GRCm39) |
missense |
probably benign |
0.06 |
IGL03277:Ift172
|
APN |
5 |
31,424,642 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03349:Ift172
|
APN |
5 |
31,441,474 (GRCm39) |
missense |
probably benign |
0.05 |
ostinato
|
UTSW |
5 |
31,434,284 (GRCm39) |
missense |
probably benign |
0.10 |
pushback
|
UTSW |
5 |
31,444,289 (GRCm39) |
missense |
probably damaging |
1.00 |
P0042:Ift172
|
UTSW |
5 |
31,418,799 (GRCm39) |
missense |
probably benign |
0.35 |
PIT4802001:Ift172
|
UTSW |
5 |
31,442,610 (GRCm39) |
missense |
probably benign |
0.03 |
R0153:Ift172
|
UTSW |
5 |
31,417,968 (GRCm39) |
missense |
probably benign |
|
R0328:Ift172
|
UTSW |
5 |
31,421,195 (GRCm39) |
nonsense |
probably null |
|
R0357:Ift172
|
UTSW |
5 |
31,415,244 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0369:Ift172
|
UTSW |
5 |
31,410,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R0391:Ift172
|
UTSW |
5 |
31,444,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R0512:Ift172
|
UTSW |
5 |
31,442,821 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0546:Ift172
|
UTSW |
5 |
31,414,945 (GRCm39) |
missense |
probably benign |
0.14 |
R0553:Ift172
|
UTSW |
5 |
31,433,186 (GRCm39) |
splice site |
probably benign |
|
R0606:Ift172
|
UTSW |
5 |
31,411,657 (GRCm39) |
missense |
probably damaging |
0.99 |
R0834:Ift172
|
UTSW |
5 |
31,414,715 (GRCm39) |
missense |
probably benign |
|
R0973:Ift172
|
UTSW |
5 |
31,415,262 (GRCm39) |
unclassified |
probably benign |
|
R0973:Ift172
|
UTSW |
5 |
31,422,699 (GRCm39) |
missense |
probably benign |
|
R1189:Ift172
|
UTSW |
5 |
31,443,174 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1205:Ift172
|
UTSW |
5 |
31,443,136 (GRCm39) |
missense |
probably benign |
|
R1289:Ift172
|
UTSW |
5 |
31,438,320 (GRCm39) |
missense |
probably damaging |
0.98 |
R1342:Ift172
|
UTSW |
5 |
31,419,210 (GRCm39) |
missense |
probably benign |
|
R1395:Ift172
|
UTSW |
5 |
31,442,582 (GRCm39) |
unclassified |
probably benign |
|
R1417:Ift172
|
UTSW |
5 |
31,413,993 (GRCm39) |
missense |
probably damaging |
1.00 |
R2020:Ift172
|
UTSW |
5 |
31,424,585 (GRCm39) |
nonsense |
probably null |
|
R2111:Ift172
|
UTSW |
5 |
31,443,423 (GRCm39) |
missense |
probably benign |
0.04 |
R2175:Ift172
|
UTSW |
5 |
31,424,029 (GRCm39) |
missense |
probably damaging |
1.00 |
R2509:Ift172
|
UTSW |
5 |
31,420,312 (GRCm39) |
missense |
probably benign |
|
R2870:Ift172
|
UTSW |
5 |
31,415,205 (GRCm39) |
missense |
probably benign |
0.00 |
R2870:Ift172
|
UTSW |
5 |
31,415,205 (GRCm39) |
missense |
probably benign |
0.00 |
R2871:Ift172
|
UTSW |
5 |
31,415,205 (GRCm39) |
missense |
probably benign |
0.00 |
R2871:Ift172
|
UTSW |
5 |
31,415,205 (GRCm39) |
missense |
probably benign |
0.00 |
R2872:Ift172
|
UTSW |
5 |
31,415,205 (GRCm39) |
missense |
probably benign |
0.00 |
R2872:Ift172
|
UTSW |
5 |
31,415,205 (GRCm39) |
missense |
probably benign |
0.00 |
R3705:Ift172
|
UTSW |
5 |
31,418,781 (GRCm39) |
critical splice donor site |
probably null |
|
R3793:Ift172
|
UTSW |
5 |
31,414,925 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4385:Ift172
|
UTSW |
5 |
31,444,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R4477:Ift172
|
UTSW |
5 |
31,422,781 (GRCm39) |
missense |
probably benign |
0.38 |
R4590:Ift172
|
UTSW |
5 |
31,411,299 (GRCm39) |
missense |
probably damaging |
1.00 |
R4663:Ift172
|
UTSW |
5 |
31,441,559 (GRCm39) |
missense |
probably benign |
0.01 |
R4665:Ift172
|
UTSW |
5 |
31,442,598 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4977:Ift172
|
UTSW |
5 |
31,429,460 (GRCm39) |
missense |
possibly damaging |
0.79 |
R5109:Ift172
|
UTSW |
5 |
31,423,330 (GRCm39) |
missense |
probably benign |
0.06 |
R5182:Ift172
|
UTSW |
5 |
31,424,958 (GRCm39) |
missense |
possibly damaging |
0.51 |
R5343:Ift172
|
UTSW |
5 |
31,421,156 (GRCm39) |
missense |
probably benign |
0.05 |
R5465:Ift172
|
UTSW |
5 |
31,418,862 (GRCm39) |
splice site |
probably null |
|
R5622:Ift172
|
UTSW |
5 |
31,440,426 (GRCm39) |
missense |
probably damaging |
1.00 |
R5718:Ift172
|
UTSW |
5 |
31,412,621 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5793:Ift172
|
UTSW |
5 |
31,434,292 (GRCm39) |
missense |
possibly damaging |
0.96 |
R5870:Ift172
|
UTSW |
5 |
31,434,284 (GRCm39) |
missense |
probably benign |
0.10 |
R5919:Ift172
|
UTSW |
5 |
31,418,006 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5968:Ift172
|
UTSW |
5 |
31,418,828 (GRCm39) |
missense |
probably damaging |
1.00 |
R6112:Ift172
|
UTSW |
5 |
31,414,241 (GRCm39) |
missense |
probably benign |
|
R6339:Ift172
|
UTSW |
5 |
31,444,289 (GRCm39) |
missense |
probably damaging |
1.00 |
R6339:Ift172
|
UTSW |
5 |
31,413,927 (GRCm39) |
missense |
probably benign |
0.00 |
R6355:Ift172
|
UTSW |
5 |
31,441,501 (GRCm39) |
missense |
probably benign |
0.33 |
R6565:Ift172
|
UTSW |
5 |
31,433,227 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6668:Ift172
|
UTSW |
5 |
31,412,683 (GRCm39) |
missense |
probably benign |
0.00 |
R6755:Ift172
|
UTSW |
5 |
31,418,342 (GRCm39) |
nonsense |
probably null |
|
R6818:Ift172
|
UTSW |
5 |
31,423,304 (GRCm39) |
missense |
probably benign |
0.01 |
R6939:Ift172
|
UTSW |
5 |
31,414,930 (GRCm39) |
missense |
probably damaging |
1.00 |
R6980:Ift172
|
UTSW |
5 |
31,414,730 (GRCm39) |
missense |
probably benign |
|
R7047:Ift172
|
UTSW |
5 |
31,433,238 (GRCm39) |
nonsense |
probably null |
|
R7156:Ift172
|
UTSW |
5 |
31,429,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R7180:Ift172
|
UTSW |
5 |
31,411,606 (GRCm39) |
missense |
probably damaging |
1.00 |
R7351:Ift172
|
UTSW |
5 |
31,433,240 (GRCm39) |
missense |
probably damaging |
1.00 |
R7706:Ift172
|
UTSW |
5 |
31,423,723 (GRCm39) |
nonsense |
probably null |
|
R7890:Ift172
|
UTSW |
5 |
31,440,425 (GRCm39) |
nonsense |
probably null |
|
R7980:Ift172
|
UTSW |
5 |
31,417,988 (GRCm39) |
missense |
probably benign |
|
R8263:Ift172
|
UTSW |
5 |
31,422,681 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8559:Ift172
|
UTSW |
5 |
31,413,921 (GRCm39) |
missense |
probably damaging |
0.98 |
R8717:Ift172
|
UTSW |
5 |
31,412,985 (GRCm39) |
missense |
probably benign |
0.00 |
R8774:Ift172
|
UTSW |
5 |
31,415,207 (GRCm39) |
missense |
probably benign |
0.45 |
R8774-TAIL:Ift172
|
UTSW |
5 |
31,415,207 (GRCm39) |
missense |
probably benign |
0.45 |
R9037:Ift172
|
UTSW |
5 |
31,420,400 (GRCm39) |
missense |
possibly damaging |
0.56 |
R9038:Ift172
|
UTSW |
5 |
31,441,399 (GRCm39) |
missense |
possibly damaging |
0.53 |
R9133:Ift172
|
UTSW |
5 |
31,442,867 (GRCm39) |
missense |
probably benign |
0.00 |
R9607:Ift172
|
UTSW |
5 |
31,410,913 (GRCm39) |
missense |
|
|
X0022:Ift172
|
UTSW |
5 |
31,442,664 (GRCm39) |
missense |
probably damaging |
0.97 |
Z1176:Ift172
|
UTSW |
5 |
31,434,268 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAATGCATCTCTGTGGTGGCATC -3'
(R):5'- AGAGTCTTACGTGGTAGCACTG -3'
Sequencing Primer
(F):5'- TCTGTGGTGGCATCCAAAC -3'
(R):5'- GTCTTACGTGGTAGCACTGACAAC -3'
|
Posted On |
2019-06-26 |